Disease: Acrofacial dysostosis Nager type
- <em>SF3B4</em> Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome
- A Case of Nager Syndrome Diagnosed Before Birth
- A Case Report of Absent Epiglottis in Children With Nager Syndrome: Its Impact on Swallowing
- A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome
- Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review
- Associated syndromes in patients with Pierre Robin Sequence
- Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome
- Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management
- Decannulation and Airway Outcomes With Maxillomandibular Distraction in Treacher Collins and Nager Syndrome
- Does canal wall down mastoidectomy benefit syndromic children with congenital aural stenosis?
- Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse
- Modified Lefort Distraction Osteogenesis for the Treatment of Nager Syndrome-Associated Midface Hypoplasia: Technique and Review
- Molecular mechanisms of hearing loss in Nager syndrome
- Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease
- Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses
- SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome
- Synchronous Bilateral Breast Cancer in a Patient With Nager Syndrome
- Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses
- The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature
- The role of double-step advancement genioplasty and bilateral coronoidectomy in Nager Syndrome: A case report
- Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish